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2024-04-20 06:56:25, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_013339 3371 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens ALG6, alpha-1,3-glucosyltransferase (ALG6), mRNA.
ACCESSION NM_013339
VERSION NM_013339.3 GI:215276978
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 3371)
AUTHORS Goreta,S.S., Dabelic,S., Pavlinic,D., Lauc,G. and Dumic,J.
TITLE Frequency Determination of alpha-1,3 Glucosyltransferase p.Y131H
and p.F304S Polymorphisms in the Croatian Population Revealed Five
Novel Single Nucleotide Polymorphisms in the hALG6 Gene
JOURNAL Genet Test Mol Biomarkers 16 (1), 50-53 (2012)
PUBMED 21899441
REMARK GeneRIF: Five novel base substitutions in the hALG6 gene were also
found: three in exon 5 (c.383T>C, c.390G>A, and c.429G>C) and two
in a downstream intervening sequence (IVS5+17C/T and IVS5+34G/A).
REFERENCE 2 (bases 1 to 3371)
AUTHORS Eklund,E.A., Sun,L., Yang,S.P., Pasion,R.M., Thorland,E.C. and
Freeze,H.H.
TITLE Congenital disorder of glycosylation Ic due to a de novo deletion
and an hALG-6 mutation
JOURNAL Biochem. Biophys. Res. Commun. 339 (3), 755-760 (2006)
PUBMED 16321363
REMARK GeneRIF: Our findings extend the causes of CDG to larger DNA
deletions and identify the first Japanese CDG-Ic mutation.
REFERENCE 3 (bases 1 to 3371)
AUTHORS Westphal,V., Xiao,M., Kwok,P.Y. and Freeze,H.H.
TITLE Identification of a frequent variant in ALG6, the cause of
Congenital Disorder of Glycosylation-Ic
JOURNAL Hum. Mutat. 22 (5), 420-421 (2003)
PUBMED 14517965
REFERENCE 4 (bases 1 to 3371)
AUTHORS Schollen,E., Martens,K., Geuzens,E. and Matthijs,G.
TITLE DHPLC analysis as a platform for molecular diagnosis of congenital
disorders of glycosylation (CDG)
JOURNAL Eur. J. Hum. Genet. 10 (10), 643-648 (2002)
PUBMED 12357336
REFERENCE 5 (bases 1 to 3371)
AUTHORS Oriol,R., Martinez-Duncker,I., Chantret,I., Mollicone,R. and
Codogno,P.
TITLE Common origin and evolution of glycosyltransferases using
Dol-P-monosaccharides as donor substrate
JOURNAL Mol. Biol. Evol. 19 (9), 1451-1463 (2002)
PUBMED 12200473
REFERENCE 6 (bases 1 to 3371)
AUTHORS Westphal,V., Schottstadt,C., Marquardt,T. and Freeze,H.H.
TITLE Analysis of multiple mutations in the hALG6 gene in a patient with
congenital disorder of glycosylation Ic
JOURNAL Mol. Genet. Metab. 70 (3), 219-223 (2000)
PUBMED 10924277
REFERENCE 7 (bases 1 to 3371)
AUTHORS Imbach,T., Grunewald,S., Schenk,B., Burda,P., Schollen,E.,
Wevers,R.A., Jaeken,J., de Klerk,J.B., Berger,E.G., Matthijs,G.,
Aebi,M. and Hennet,T.
TITLE Multi-allelic origin of congenital disorder of glycosylation
(CDG)-Ic
JOURNAL Hum. Genet. 106 (5), 538-545 (2000)
PUBMED 10914684
REFERENCE 8 (bases 1 to 3371)
AUTHORS Imbach,T., Burda,P., Kuhnert,P., Wevers,R.A., Aebi,M., Berger,E.G.
and Hennet,T.
TITLE A mutation in the human ortholog of the Saccharomyces cerevisiae
ALG6 gene causes carbohydrate-deficient glycoprotein syndrome
type-Ic
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 96 (12), 6982-6987 (1999)
PUBMED 10359825
REFERENCE 9 (bases 1 to 3371)
AUTHORS Korner,C., Knauer,R., Holzbach,U., Hanefeld,F., Lehle,L. and von
Figura,K.
TITLE Carbohydrate-deficient glycoprotein syndrome type V: deficiency of
dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase
JOURNAL Proc. Natl. Acad. Sci. U.S.A. 95 (22), 13200-13205 (1998)
PUBMED 9789065
REFERENCE 10 (bases 1 to 3371)
AUTHORS Burda,P., Borsig,L., de Rijk-van Andel,J., Wevers,R., Jaeken,J.,
Carchon,H., Berger,E.G. and Aebi,M.
TITLE A novel carbohydrate-deficient glycoprotein syndrome characterized
by a deficiency in glucosylation of the dolichol-linked
oligosaccharide
JOURNAL J. Clin. Invest. 102 (4), 647-652 (1998)
PUBMED 9710431
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BI819904.1, BC001253.1 and
AL592218.8.
This sequence is a reference standard in the RefSeqGene project.
On Nov 29, 2008 this sequence version replaced gi:38026891.
Summary: This gene encodes a member of the ALG6/ALG8
glucosyltransferase family. The encoded protein catalyzes the
addition of the first glucose residue to the growing lipid-linked
oligosaccharide precursor of N-linked glycosylation. Mutations in
this gene are associated with congenital disorders of glycosylation
type Ic. [provided by RefSeq, Jul 2008].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data because no single transcript was available
for the full length of the gene. The extent of this transcript is
supported by transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: AF063604.2, AK022700.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025085 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-68 BI819904.1 1-68
69-1215 BC001253.1 1-1147
1216-1216 AL592218.8 4447-4447
1217-2010 BC001253.1 1149-1942
2011-3371 AL592218.8 25768-27128
FEATURES Location/Qualifiers
source 1..3371
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1p31.3"
gene 1..3371
/gene="ALG6"
/gene_synonym="CDG1C"
/note="ALG6, alpha-1,3-glucosyltransferase"
/db_xref="GeneID:29929"
/db_xref="HGNC:23157"
/db_xref="MIM:604566"
exon 1..98
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
exon 99..387
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
misc_feature 297..299
/gene="ALG6"
/gene_synonym="CDG1C"
/note="upstream in-frame stop codon"
CDS 306..1829
/gene="ALG6"
/gene_synonym="CDG1C"
/EC_number="2.4.1.267"
/note="Man(9)GlcNAc(2)-PP-Dol
alpha-1,3-glucosyltransferase; asparagine-linked
glycosylation 6 homolog (S. cerevisiae,
alpha-1,3-glucosyltransferase); asparagine-linked
glycosylation 6 homolog (yeast,
alpha-1,3-glucosyltransferase);
dolichyl-P-Glc:Man9GlcNAc2-PP-dolichylglucosyltransferase;
dolichyl pyrophosphate Man9GlcNAc2
alpha-1,3-glucosyltransferase; asparagine-linked
glycosylation protein 6 homolog;
dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl
glucosyltransferase; dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol
alpha-1,3-glucosyltransferase; asparagine-linked
glycosylation 6, alpha-1,3-glucosyltransferase homolog;
dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha-
1->3-glucosyltransferase"
/codon_start=1
/product="dolichyl pyrophosphate Man9GlcNAc2
alpha-1,3-glucosyltransferase precursor"
/protein_id="NP_037471.2"
/db_xref="GI:38026892"
/db_xref="CCDS:CCDS30735.1"
/db_xref="GeneID:29929"
/db_xref="HGNC:23157"
/db_xref="MIM:604566"
/translation="
MEKWYLMTVVVLIGLTVRWTVSLNSYSGAGKPPMFGDYEAQRHWQEITFNLPVKQWYFNSSDNNLQYWGLDYPPLTAYHSLLCAYVAKFINPDWIALHTSRGYESQAHKLFMRTTVLIADLLIYIPAVVLYCCCLKEISTKKKIANALCILLYPGLILIDYGHFQYNSVSLGFALWGVLGISCDCDLLGSLAFCLAINYKQMELYHALPFFCFLLGKCFKKGLKGKGFVLLVKLACIVVASFVLCWLPFFTEREQTLQVLRRLFPVDRGLFEDKVANIWCSFNVFLKIKDILPRHIQLIMSFCSTFLSLLPACIKLILQPSSKGFKFTLVSCALSFFLFSFQVHEKSILLVSLPVCLVLSEIPFMSTWFLLVSTFSMLPLLLKDELLMPSVVTTMAFFIACVTSFSIFEKTSEEELQLKSFSISVRKYLPCFTFLSRIIQYLFLISVITMVLLTLMTVTLDPPQKLPDLFSVLVCFVSCLNFLFFLVYFNIIIMWDSKSGRNQKKIS
"
sig_peptide 306..371
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
misc_feature 315..377
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y672.1);
transmembrane region"
misc_feature 339..1778
/gene="ALG6"
/gene_synonym="CDG1C"
/note="ALG6, ALG8 glycosyltransferase family; Region:
Alg6_Alg8; pfam03155"
/db_xref="CDD:111992"
misc_feature 648..710
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y672.1);
transmembrane region"
misc_feature 735..797
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y672.1);
transmembrane region"
misc_feature 822..884
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y672.1);
transmembrane region"
misc_feature 984..1046
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y672.1);
transmembrane region"
misc_feature 1197..1259
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y672.1);
transmembrane region"
misc_feature 1275..1337
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y672.1);
transmembrane region"
misc_feature 1389..1451
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y672.1);
transmembrane region"
misc_feature 1467..1529
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y672.1);
transmembrane region"
misc_feature 1617..1679
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y672.1);
transmembrane region"
misc_feature 1722..1784
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y672.1);
transmembrane region"
exon 388..472
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
exon 473..562
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
exon 563..651
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
exon 652..734
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
variation complement(696)
/gene="ALG6"
/gene_synonym="CDG1C"
/replace="c"
/replace="t"
/db_xref="dbSNP:35383149"
exon 735..799
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
exon 800..985
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
exon 986..1121
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
exon 1122..1207
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
exon 1208..1292
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
exon 1293..1363
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
exon 1364..1432
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
STS 1365..1574
/gene="ALG6"
/gene_synonym="CDG1C"
/standard_name="MARC_31587-31588:1062527482:1"
/db_xref="UniSTS:269200"
exon 1433..1631
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
exon 1632..3371
/gene="ALG6"
/gene_synonym="CDG1C"
/inference="alignment:Splign:1.39.8"
STS 1636..2201
/gene="ALG6"
/gene_synonym="CDG1C"
/standard_name="ALG6_9608"
/db_xref="UniSTS:468276"
STS 1686..1835
/gene="ALG6"
/gene_synonym="CDG1C"
/standard_name="SHGC-34347"
/db_xref="UniSTS:45640"
STS 1692..1900
/gene="ALG6"
/gene_synonym="CDG1C"
/standard_name="RH68218"
/db_xref="UniSTS:32936"
polyA_signal 1988..1993
/gene="ALG6"
/gene_synonym="CDG1C"
polyA_site 2010
/gene="ALG6"
/gene_synonym="CDG1C"
polyA_signal 3326..3331
/gene="ALG6"
/gene_synonym="CDG1C"
polyA_site 3362
/gene="ALG6"
/gene_synonym="CDG1C"
ORIGIN
cggaaggccggaggggcagtccgccgcgggggcgagcgcgcatgcgccttcctgggacccacggcaggcgcgaatcccagcggccggcgggcggcggggatacttctacatagacataatcaagttttgactatttggaaaccaagcatcattaaaattctctcaaactcctaattgcgaagaatcgataacatttcaagaagtgataacatttctctgaacaagaaaagaagtgattgaccacgttttaaaagtactctggcactggtgctgtgttttcttcccctccctaaatttgaagaactatggagaaatggtacttgatgacagtagtggttttaataggactaacagtacgatggacagtgtctcttaattcttattcaggtgctggtaaaccgcctatgtttggtgattatgaagctcagagacactggcaagaaataacttttaatttaccggtcaaacaatggtattttaacagcagtgataacaatttacagtattggggattggattacccacctcttacagcttatcatagtctcctatgtgcatatgtggcaaagtttataaatccagactggattgctctccatacatcacgtggatatgagagtcaggcacataagctcttcatgcgtacaacagttttaattgctgatctgctgatttacatacctgcagtggttttgtactgttgttgcttaaaagaaatctcaactaagaaaaagattgctaatgcattatgcatcttgctgtatccaggccttattcttatagactatggacattttcaatataattctgtgagtcttggctttgctttgtggggtgttcttggaatatcttgtgactgcgacctcctagggtcactggcattttgcttagctataaattataaacagatggaactttaccacgccttgccatttttttgctttttacttggcaagtgttttaaaaaaggcctcaaaggaaaggggtttgtgttgctagttaagctagcttgtattgttgtggcttccttcgttctctgctggctgccattctttacagaaagggaacaaaccctgcaggttctaagaagactcttcccggttgatcgtggattatttgaggataaagtagccaatatttggtgcagcttcaatgtctttctgaagattaaggatattttgccacgtcacatccaattaataatgagcttttgttctacgtttttgagcctgcttcctgcatgcataaaattaatacttcagccctcttccaaaggattcaaatttacactggttagctgtgcgctatcattctttttattttctttccaagtacatgaaaaatccattctcttggtgtcactaccagtctgcttagttttaagtgaaattccttttatgtctacttggtttttacttgtgtcaacatttagtatgctacctcttctattgaaggatgaactcctaatgccctctgttgtgacaacaatggcattttttatagcttgtgtaacttccttttcaatatttgaaaagacttctgaagaagaactgcagttgaaatccttttccatttctgtgaggaaatatcttccatgttttacatttctttccagaattatacaatatttgtttcttatctcagtcatcactatggtgcttctgacgttgatgactgtcacactggatcctcctcagaaactaccggacttgttttctgtattggtgtgttttgtatcttgcttgaacttcctgttcttcttggtatactttaacattattattatgtgggattccaaaagtggaagaaatcagaagaaaatcagctagctgtattcctaaacaaattgtttcctaaacaaatgtgaaaatgtgaacagtgctgaaaggttttgtgaactttttgctatgtataaatgaaattaccattttgagaaccatggaaccacaggaaaggaaatggtgaaaagtcattgttgtctacacaaaataaatgtatatggagaccaaagaccaatggaggcttgtctaagtactgcttggccaaaacatgtggttttattattcacagctattcaagtggggaaaaaagagaaacatgtccttaatcccattgtttactcaggaaatgcactttttaaatgtctttaaaaaactgagaaatatttcttgatatttgctttgtctaaacctacttccttcatcagaccatatagtgagcttcatgggagaattgagccccttctttttaatggaaatcactaattttggtattcaaacttacattttagaatgcaagtagtgtgtatttcactgtttagaagtcatatcttagggaattaaatttgtgataatctttttaattactgagaaggcaatttaaactgcttgaagtttgaatatgccttattacacatgcaaatttgattgttttaacaaggcaaataaaccataatcttatttatttccaagaatgcatattttaatacaattaaaaatgaattttcctgaatttaaatgtaagctttaacttaactttaagtggtttgagtgaagtcttctaaattacacataatcactggttctaaacttccagaaccattctgtttaattaaacattatattatatatatattattattgacatggttcagggttaccactgccagagcattgattcatgttaacttcatcctattaatactgtatcaccctgtattagcagaagccaatatttattatagtattcaactggtaaaaataatacatgatatccatgttgcagtttctcatataaagatatgttttctttagcctctgtaataaagataatcattttcccatcaacattttttaaggaatatatttcttctttcataagatagccattaaactatattaagtggtggtatattttaatatagtgcaaatcaaaccacatacaaaaaaaaactggttctagacacggacagtcacaggctgatataagaaggtatgtgtttctaagtctggtaaaggaagtgggtttagacaaagcaaaaatctagaaaggtttctttctcaaagcaaatgtgcataaagactcaaagggcaggtcaacgcagaatagcagccttgaatcactgccgaatcagcaagaacattgctgtccatggtcaccatctgtaatcactgtgcccaaatgtcagcatcttggctggctggtgtagctttatttttaaaaatattttttgtaatagtacacttgtgtttaacatagaatgttgacttagataaatgatgaggaagttataaataattggagtagcataactttattatttggaaataaaagtattatgtacatatattagtaaaatgaaatgcacctga
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:29929 -> Molecular function: GO:0046527 [glucosyltransferase activity] evidence: IDA
GeneID:29929 -> Biological process: GO:0006487 [protein N-linked glycosylation] evidence: IDA
GeneID:29929 -> Biological process: GO:0006487 [protein N-linked glycosylation] evidence: IGI
GeneID:29929 -> Biological process: GO:0006488 [dolichol-linked oligosaccharide biosynthetic process] evidence: TAS
GeneID:29929 -> Biological process: GO:0018279 [protein N-linked glycosylation via asparagine] evidence: TAS
GeneID:29929 -> Biological process: GO:0043687 [post-translational protein modification] evidence: TAS
GeneID:29929 -> Biological process: GO:0044267 [cellular protein metabolic process] evidence: TAS
GeneID:29929 -> Cellular component: GO:0005575 [cellular_component] evidence: ND
GeneID:29929 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: TAS
GeneID:29929 -> Cellular component: GO:0016021 [integral to membrane] evidence: IEA
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_037471 -> EC 2.4.1.267
by
@meso_cacase at
DBCLS
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